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LCATD
MCID: LCT022
MIFTS: 61

Lecithin:cholesterol Acyltransferase Deficiency (LCATD)

Categories: Blood diseases, Endocrine diseases, Eye diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Lecithin:cholesterol Acyltransferase Deficiency

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MalaCards integrated aliases for Lecithin:cholesterol Acyltransferase Deficiency:

Name: Lecithin:cholesterol Acyltransferase Deficiency 58 12 76 38
Norum Disease 58 12 77 60 76 30 13 6 15
Lcat Deficiency 58 77 60 56
Lecithin Cholesterol Acyltransferase Deficiency 77 56 45
Lecithin-Cholesterol Acyltransferase Deficiency 60 76
Lecithin Acyltransferase Deficiency 12 74
Familial Lcat Deficiency 60 76
Fld 60 76
Deficiency, Lecithin:cholesterol Acyltransferase 41
Lecithin-Cholesterol Acyltransferase 13
Complete Lcat Deficiency 60
Lcatd 76

Characteristics:

Orphanet epidemiological data:

60
lcat deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;
familial lcat deficiency
Inheritance: Autosomal recessive,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
lecithin:cholesterol acyltransferase deficiency:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases
Anatomical: Eye diseases Nephrological diseases Endocrine diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 34 35
Orphanet: 60  
Rare eye diseases
Rare renal diseases
Inborn errors of metabolism
Rare endocrine diseases
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:1391
OMIM 58 245900
KEGG 38 H00158
MeSH 45 D007863
NCIt 51 C84813
SNOMED-CT 69 49227001
ICD10 34 E78.6
ICD10 via Orphanet 35 E78.6
UMLS via Orphanet 75 C0023195
MedGen 43 C0023195
UMLS 74 C0023195
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Summaries for Lecithin:cholesterol Acyltransferase Deficiency

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UniProtKB/Swiss-Prot : 76 Lecithin-cholesterol acyltransferase deficiency: A disorder of lipoprotein metabolism characterized by inadequate esterification of plasmatic cholesterol. Two clinical forms are recognized: complete LCAT deficiency and fish-eye disease. LCATD is generally referred to the complete form which is associated with absence of both alpha and beta LCAT activities resulting in esterification anomalies involving both HDL (alpha-LCAT activity) and LDL (beta-LCAT activity). It causes a typical triad of diffuse corneal opacities, target cell hemolytic anemia, and proteinuria with renal failure.

MalaCards based summary : Lecithin:cholesterol Acyltransferase Deficiency, also known as norum disease, is related to fish-eye disease and familial lcat deficiency. An important gene associated with Lecithin:cholesterol Acyltransferase Deficiency is LCAT (Lecithin-Cholesterol Acyltransferase), and among its related pathways/superpathways are Glycerophospholipid metabolism and Metabolism. The drugs Racepinephrine and Epinephrine have been mentioned in the context of this disorder. Affiliated tissues include eye, kidney and bone, and related phenotypes are corneal opacity and hypertriglyceridemia

Genetics Home Reference : 26 Complete LCAT deficiency is a disorder that primarily affects the eyes and kidneys.

OMIM : 58 Lecithin:cholesterol acyltransferase deficiency is a disorder of lipoprotein metabolism and causes a typical triad of diffuse corneal opacities, target cell hemolytic anemia, and proteinuria with renal failure. (245900)

Wikipedia : 77 Lecithin cholesterol acyltransferase deficiency (LCAT deficiency) is a disorder of lipoprotein... more...

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Related Diseases for Lecithin:cholesterol Acyltransferase Deficiency

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Diseases related to Lecithin:cholesterol Acyltransferase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 119)
# Related Disease Score Top Affiliating Genes
1 fish-eye disease 34.3 APOA1 APOA2 LCAT
2 familial lcat deficiency 32.6 ALB APOA1 APOA2 APOE LCAT
3 schnyder corneal dystrophy 32.2 APOA2 APOB APOE
4 ischemic heart disease 30.5 APOA1 APOB APOE LPL
5 kwashiorkor 30.4 ALB LCAT
6 sea-blue histiocyte disease 30.4 APOB APOE LCAT LDLR
7 diabetes mellitus 30.2 ALB APOA1 APOB LPA LPL
8 uremia 30.2 ALB APOC3 LPL
9 coronary artery anomaly 30.2 APOA1 APOB CETP LPA LPL
10 aortic atherosclerosis 30.2 APOE CETP LDLR LPA
11 kidney disease 30.1 ALB APOC3 APOE LCAT LPA
12 tangier disease 30.1 APOA1 APOA2 APOB APOE CETP LCAT
13 abetalipoproteinemia 30.1 APOA1 APOB APOE CETP LCAT LDLR
14 defective apolipoprotein b-100 30.1 APOB APOE LCAT LDLR
15 hyperlipidemia, familial combined 29.9 APOA1 APOA2 APOB APOC2 APOC3 LPA
16 atherosclerosis susceptibility 29.9 APOA1 APOB APOE CETP LDLR LPA
17 hypertriglyceridemia, familial 29.9 APOA1 APOB APOC2 APOC3 APOE CETP
18 arteries, anomalies of 29.5 ALB APOA1 APOB APOE CETP LDLR
19 heart disease 29.4 ALB APOA1 APOB APOC3 APOE LDLR
20 myocardial infarction 29.2 ALB APOA1 APOA2 APOB APOC3 APOE
21 vascular disease 29.0 ALB APOA1 APOB APOE CETP LDLR
22 coronary heart disease 1 29.0 APOA1 APOA2 APOB APOC3 APOE CETP
23 hypercholesterolemia, familial 28.6 APOA1 APOA2 APOB APOC2 APOC3 APOE
24 diabetes mellitus, noninsulin-dependent 28.2 ALB APOA1 APOA2 APOB APOC2 APOC3
25 fatty liver disease 11.5
26 fazio-londe disease 11.1
27 liver disease 10.4
28 retinitis pigmentosa 10.4
29 huntington disease-like 3 10.4
30 huntington disease-like 2 10.4
31 obstructive jaundice 10.4
32 apo a-i deficiency 10.4 APOA1 LCAT
33 hepatitis 10.4
34 xanthoma disseminatum 10.3 APOB APOE
35 hypertriglyceridemia, transient infantile 10.3
36 fetal macrosomia 10.3 APOA1 APOB LCAT
37 hepatic lipase deficiency 10.3 APOA1 APOE LPL
38 amyloidosis aa 10.3 APOA1 LCAT LPA
39 cerebral atherosclerosis 10.2 APOA1 APOE
40 niemann-pick disease, type b 10.2 APOA1 LCAT LPA
41 apolipoprotein c-ii deficiency 10.2 APOC2 LPL
42 biliary cirrhosis, primary, 1 10.2
43 bloom syndrome 10.2
44 respiratory distress syndrome in premature infants 10.2
45 alcoholic hepatitis 10.2
46 chronic kidney failure 10.2
47 glomerulonephritis 10.2
48 liver cirrhosis 10.2
49 newborn respiratory distress syndrome 10.2
50 primary biliary cirrhosis 10.2

Graphical network of the top 20 diseases related to Lecithin:cholesterol Acyltransferase Deficiency:



Diseases related to Lecithin:cholesterol Acyltransferase Deficiency
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Symptoms & Phenotypes for Lecithin:cholesterol Acyltransferase Deficiency

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Human phenotypes related to Lecithin:cholesterol Acyltransferase Deficiency:

60 33 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 corneal opacity 60 33 hallmark (90%) Very frequent (99-80%) HP:0007957
2 hypertriglyceridemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002155
3 hemolytic anemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001878
4 hypertension 60 33 frequent (33%) Frequent (79-30%) HP:0000822
5 renal insufficiency 60 33 frequent (33%) Frequent (79-30%) HP:0000083
6 proteinuria 60 33 frequent (33%) Frequent (79-30%) HP:0000093
7 hematuria 60 33 frequent (33%) Frequent (79-30%) HP:0000790
8 splenomegaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001744
9 hepatomegaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0002240
10 visual loss 60 33 occasional (7.5%) Occasional (29-5%) HP:0000572
11 lymphadenopathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0002716
12 atherosclerosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002621
13 opacification of the corneal stroma 33 HP:0007759
14 foam cells 33 HP:0003651
15 normochromic anemia 33 HP:0001895
16 decreased hdl cholesterol concentration 33 HP:0003233

Symptoms via clinical synopsis from OMIM:

58
Laboratory Abnormalities:
proteinuria
increased plasma triglycerides
decreased plasma esterified cholesterol
decreased apoa-i and apoa-ii
decreased plasma hdl (<1/10 of normal levels)
more
Genitourinary Kidneys:
renal failure

Hematology:
hemolytic anemia
normochromic anemia

Head And Neck Eyes:
corneal opacities
corneal lipid deposits

Clinical features from OMIM:

245900

GenomeRNAi Phenotypes related to Lecithin:cholesterol Acyltransferase Deficiency according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 9.56 APOA1 APOB APOC3 APOE CETP LDLR
2 Increased LDL uptake GR00340-A-1 8.92 APOA1 APOE LDLR LPL

MGI Mouse Phenotypes related to Lecithin:cholesterol Acyltransferase Deficiency:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.8 ALB APOA1 APOA2 APOB APOC2 APOE
2 endocrine/exocrine gland MP:0005379 9.76 ALB APOA1 APOE IGBP1 LCAT LDLR
3 liver/biliary system MP:0005370 9.28 ALB APOA1 APOB APOE EPB41 LCAT
Sources

Drugs & Therapeutics for Lecithin:cholesterol Acyltransferase Deficiency

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Drugs for Lecithin:cholesterol Acyltransferase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 27)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Racepinephrine Approved Phase 3 329-65-7 838
2
Epinephrine Approved, Vet_approved Phase 3 51-43-4 5816
3
Cosyntropin Approved Phase 3 16960-16-0 16129617
4
Hydrocortisone acetate Approved, Vet_approved Phase 3 50-03-3
5
Hydrocortisone Approved, Vet_approved Phase 3 50-23-7 5754
6 Hydrocortisone 17-butyrate 21-propionate Phase 3
7 Mydriatics Phase 3
8 Adrenergic beta-Agonists Phase 3
9 Peripheral Nervous System Agents Phase 3
10 Adrenergic Agonists Phase 3
11 Hormones Phase 3
12 Vasoconstrictor Agents Phase 3
13 Anti-Asthmatic Agents Phase 3
14 Autonomic Agents Phase 3
15 Neurotransmitter Agents Phase 3
16 Sympathomimetics Phase 3
17 Adrenergic alpha-Agonists Phase 3
18 Epinephryl borate Phase 3
19 Hormone Antagonists Phase 3
20 Bronchodilator Agents Phase 3
21 Adrenergic Agents Phase 3
22 Respiratory System Agents Phase 3
23 Hydrocortisone hemisuccinate Phase 3
24 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
25 Lecithin Phase 1
26
Adenosine Approved, Investigational Not Applicable 58-61-7 60961
27 Pharmaceutical Solutions Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Is Adrenal Insufficiency Under-diagnosed in Hospitalized Cirrhosis Patients? Recruiting NCT03368066 Phase 3 Cosyntropin
2 Effect of ACP-501 on Safety, Tolerability, Pharmacokinetics and Pharmacodynamics in Subjects With Coronary Artery Disease Completed NCT01554800 Phase 1 ACP-501
3 Mendelian Reverse Cholesterol Transport Study Suspended NCT01782027 Not Applicable 3H-cholesterol bound to albumin

Search NIH Clinical Center for Lecithin:cholesterol Acyltransferase Deficiency

Cochrane evidence based reviews: lecithin cholesterol acyltransferase deficiency

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Genetic Tests for Lecithin:cholesterol Acyltransferase Deficiency

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Genetic tests related to Lecithin:cholesterol Acyltransferase Deficiency:

# Genetic test Affiliating Genes
1 Norum Disease 30 LCAT
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Anatomical Context for Lecithin:cholesterol Acyltransferase Deficiency

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MalaCards organs/tissues related to Lecithin:cholesterol Acyltransferase Deficiency:

42
Eye, Kidney, Bone, Bone Marrow
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Publications for Lecithin:cholesterol Acyltransferase Deficiency

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Articles related to Lecithin:cholesterol Acyltransferase Deficiency:

(show top 50) (show all 108)
# Title Authors Year
1
Case Report: Management of Corneal Clouding from Lecithin: Cholesterol Acyltransferase Deficiency. ( 30601362 )
2019
2
Impact of apolipoprotein A1- or lecithin:cholesterol acyltransferase-deficiency on white adipose tissue metabolic activity and glucose homeostasis in mice. ( 30742993 )
2019
3
Complete and Partial Lecithin:Cholesterol Acyltransferase Deficiency Is Differentially Associated With Atherosclerosis. ( 29748187 )
2018
4
Lp8 is potentially associated with partial lecithin:cholesterol acyltransferase deficiency in a patient with primary biliary cirrhosis. ( 30055975 )
2018
5
A case of acquired lecithin:cholesterol acyltransferase deficiency with sarcoidosis that remitted spontaneously. ( 28508975 )
2016
6
Familial lecithin:cholesterol acyltransferase deficiency: First-in-human treatment with enzyme replacement. ( 27055967 )
2016
7
A review on lecithin:cholesterol acyltransferase deficiency. ( 25172171 )
2015
8
Acquired lecithin:cholesterol acyltransferase deficiency as a major factor in lowering plasma HDL levels in chronic kidney disease. ( 25039266 )
2015
9
Lipoprotein subfractions highly associated with renal damage in familial lecithin:cholesterol acyltransferase deficiency. ( 24876348 )
2014
10
Genetic lecithin:cholesterol acyltransferase deficiency and cardiovascular disease. ( 22189200 )
2012
11
Lecithin:cholesterol acyltransferase deficiency protects against cholesterol-induced hepatic endoplasmic reticulum stress in mice. ( 22500017 )
2012
12
Novel missense variants in LCAT and APOB genes in an Italian kindred with familial lecithin:cholesterol acyltransferase deficiency and hypobetalipoproteinemia. ( 22658148 )
2012
13
Human lecithin:cholesterol acyltransferase deficiency: in vivo kinetics of low-density lipoprotein and lipoprotein-X. ( 16543491 )
2006
14
Point mutations in apolipoprotein A-I mimic the phenotype observed in patients with classical lecithin:cholesterol acyltransferase deficiency. ( 16245952 )
2005
15
The molecular basis of lecithin:cholesterol acyltransferase deficiency syndromes: a comprehensive study of molecular and biochemical findings in 13 unrelated Italian families. ( 15994445 )
2005
16
Lecithin:cholesterol acyltransferase deficiency increases atherosclerosis in the low density lipoprotein receptor and apolipoprotein E knockout mice. ( 11719520 )
2002
17
Acquired lecithin-cholesterol acyltransferase deficiency in nephrotic syndrome. ( 11292624 )
2001
18
Possible induction of renal dysfunction in patients with lecithin:cholesterol acyltransferase deficiency by oxidized phosphatidylcholine in glomeruli. ( 10073988 )
1999
19
Familial Lecithin:cholesterol acyltransferase deficiency with renal failure in two siblings. First case report from India. ( 9884427 )
1999
20
Transmission of two novel mutations in a pedigree with familial lecithin:cholesterol acyltransferase deficiency: structure-function relationships and studies in a compound heterozygous proband. ( 9741700 )
1998
21
Familial lecithin:cholesterol acyltransferase deficiency: molecular analysis of a compound heterozygote: LCAT (Arg147 --&amp;gt; Trp) and LCAT (Tyr171 --&amp;gt; Stop). ( 9180249 )
1997
22
Functional lecithin:cholesterol acyltransferase deficiency and high density lipoprotein deficiency in transgenic mice overexpressing human apolipoprotein A-II. ( 8636092 )
1996
23
Two different allelic mutations in a Finnish family with lecithin:cholesterol acyltransferase deficiency. ( 7749857 )
1995
24
Characterization of subspecies of lipoprotein containing apolipoprotein A-I in heterozygotes for familial lecithin:cholesterol acyltransferase deficiency. ( 7605383 )
1995
25
Characterization of subspecies of apolipoprotein A-I-containing lipoprotein in homozygotes for familial lecithin:cholesterol acyltransferase deficiency. ( 8018670 )
1994
26
Lecithin-cholesterol acyltransferase deficiency: first report of case in a United States citizen. ( 8027002 )
1994
27
Lecithin:cholesterol acyltransferase deficiency: identification of a causative gene mutation and a co-inherited protein polymorphism. ( 8318557 )
1993
28
Familial lecithin:cholesterol acyltransferase deficiency: further resolution of lipoprotein particle heterogeneity in the low density interval. ( 8141844 )
1993
29
The genetic defect of the original Norwegian lecithin:cholesterol acyltransferase deficiency families. ( 1516702 )
1992
30
Successful renal transplantation in a patient with familial lecithin:cholesterol acyltransferase deficiency. ( 1514967 )
1992
31
Differential phenotypic expression by three mutant alleles in familial lecithin:cholesterol acyltransferase deficiency. ( 1681161 )
1991
32
Apolipoprotein AIMilano. Partial lecithin:cholesterol acyltransferase deficiency due to low levels of a functional enzyme. ( 2106917 )
1990
33
Plasma lipoprotein abnormalities in heterozygotes for familial lecithin:cholesterol acyltransferase deficiency. ( 3121980 )
1988
34
Lecithin:cholesterol acyltransferase deficiency. ( 3203243 )
1988
35
A study of the structure of the gene for lecithin: cholesterol acyltransferase in four unrelated individuals with familial lecithin: cholesterol acyltransferase deficiency. ( 3338256 )
1988
36
Ophthalmic observations in lecithin cholesterol acyltransferase deficiency. ( 3341979 )
1988
37
Recognizing familial lecithin cholesterol acyltransferase deficiency at the slit lamp. ( 3415535 )
1988
38
Alpha-lecithin:cholesterol acyltransferase deficiency. Lack of both phospholipase A2 and acyltransferase activities characteristic of high density lipoprotein lecithin:cholesterol acyltransferase in fish eye disease. ( 3630775 )
1987
39
Hereditary lecithin-cholesterol acyltransferase deficiency. Case report of a German patient. ( 3661502 )
1987
40
Study of the components of reverse cholesterol transport in lecithin:cholesterol acyltransferase deficiency. ( 3674887 )
1987
41
The basic apolipoprotein A-I in the patients with familial lecithin:cholesterol acyltransferase deficiency. ( 3088715 )
1986
42
Nephropathy of familial lecithin-cholesterol acyltransferase deficiency: report of a case. ( 3510535 )
1986
43
Renal lesions in familial lecithin-cholesterol acyltransferase deficiency. Ultrastructural heterogeneity of glomerular changes. ( 3963061 )
1986
44
Prematurity and lecithin-cholesterol acyltransferase deficiency in newborn infants. ( 3969314 )
1985
45
Familial lecithin:cholesterol acyltransferase deficiency. Biochemistry of the cornea. ( 3989388 )
1985
46
Defective enzyme causes lecithin-cholesterol acyltransferase deficiency in a Japanese kindred. ( 4005283 )
1985
47
Self-adaptive modification of red-cell membrane lipids in lecithin: cholesterol acyltransferase deficiency. Lipid analysis and spin labeling. ( 6320877 )
1984
48
Effects of plasma infusion on plasma lipids, apoproteins and plasma enzyme activities in familial lecithin: cholesterol acyltransferase deficiency. ( 6428900 )
1984
49
Decreased sodium influx and abnormal red cell membrane lipids in a patient with familial plasma lecithin: cholesterol acyltransferase deficiency. ( 6695915 )
1984
50
A study of the small spherical high density lipoproteins of patients afflicted with familial lecithin: cholesterol acyltransferase deficiency. ( 6726080 )
1984
Sources

Variations for Lecithin:cholesterol Acyltransferase Deficiency

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UniProtKB/Swiss-Prot genetic disease variations for Lecithin:cholesterol Acyltransferase Deficiency:

76 (show all 22)
# Symbol AA change Variation ID SNP ID
1 LCAT p.Gly54Ser VAR_004253 rs146114575
2 LCAT p.Gly57Arg VAR_004254
3 LCAT p.Ala117Thr VAR_004255 rs28940886
4 LCAT p.Arg159Trp VAR_004257 rs28940887
5 LCAT p.Arg164His VAR_004258 rs769485083
6 LCAT p.Arg171Trp VAR_004259
7 LCAT p.Tyr180Asn VAR_004260 rs749740660
8 LCAT p.Leu233Pro VAR_004262 rs28942087
9 LCAT p.Asn252Lys VAR_004263 rs121908049
10 LCAT p.Met317Ile VAR_004265 rs121908048
11 LCAT p.Thr345Met VAR_004266 rs28940888
12 LCAT p.Asn29Ile VAR_039020
13 LCAT p.Thr37Met VAR_039022 rs971887742
14 LCAT p.Arg164Cys VAR_039028 rs138000954
15 LCAT p.Ser205Asn VAR_039030
16 LCAT p.Lys242Asn VAR_039031
17 LCAT p.Arg268His VAR_039032 rs780824776
18 LCAT p.Thr298Ala VAR_039033
19 LCAT p.Thr298Ile VAR_039034
20 LCAT p.Pro331Ser VAR_039035
21 LCAT p.Val333Met VAR_039036 rs776035233
22 LCAT p.Phe406Val VAR_039038

ClinVar genetic disease variations for Lecithin:cholesterol Acyltransferase Deficiency:

6 (show all 39)
# Gene Variation Type Significance SNP ID Assembly Location
1 LCAT NM_000229.1(LCAT): c.508T> C (p.Trp170Arg) single nucleotide variant Pathogenic rs267607211 GRCh37 Chromosome 16, 67976589: 67976589
2 LCAT NM_000229.1(LCAT): c.508T> C (p.Trp170Arg) single nucleotide variant Pathogenic rs267607211 GRCh38 Chromosome 16, 67942686: 67942686
3 LCAT NM_000229.1(LCAT): c.951G> A (p.Met317Ile) single nucleotide variant Pathogenic rs121908048 GRCh37 Chromosome 16, 67974179: 67974179
4 LCAT NM_000229.1(LCAT): c.951G> A (p.Met317Ile) single nucleotide variant Pathogenic rs121908048 GRCh38 Chromosome 16, 67940276: 67940276
5 LCAT NM_000229.1(LCAT): c.492_493insGGC (p.Arg164_Ala165insGly) insertion Pathogenic rs794726662 GRCh38 Chromosome 16, 67942701: 67942702
6 LCAT NM_000229.1(LCAT): c.492_493insGGC (p.Arg164_Ala165insGly) insertion Pathogenic rs794726662 GRCh37 Chromosome 16, 67976604: 67976605
7 LCAT NM_000229.1(LCAT): c.756C> A (p.Asn252Lys) single nucleotide variant Pathogenic rs121908049 GRCh37 Chromosome 16, 67974374: 67974374
8 LCAT NM_000229.1(LCAT): c.756C> A (p.Asn252Lys) single nucleotide variant Pathogenic rs121908049 GRCh38 Chromosome 16, 67940471: 67940471
9 LCAT LCAT, 1-BP INS, EX1 insertion Pathogenic
10 LCAT NM_000229.1(LCAT): c.827T> A (p.Met276Lys) single nucleotide variant Pathogenic rs121908054 GRCh37 Chromosome 16, 67974303: 67974303
11 LCAT NM_000229.1(LCAT): c.827T> A (p.Met276Lys) single nucleotide variant Pathogenic rs121908054 GRCh38 Chromosome 16, 67940400: 67940400
12 LCAT NM_000229.1(LCAT): c.698T> C (p.Leu233Pro) single nucleotide variant Pathogenic rs28942087 GRCh37 Chromosome 16, 67976316: 67976316
13 LCAT NM_000229.1(LCAT): c.698T> C (p.Leu233Pro) single nucleotide variant Pathogenic rs28942087 GRCh38 Chromosome 16, 67942413: 67942413
14 LCAT NM_000229.1(LCAT): c.349G> A (p.Ala117Thr) single nucleotide variant no interpretation for the single variant rs28940886 GRCh37 Chromosome 16, 67976842: 67976842
15 LCAT NM_000229.1(LCAT): c.349G> A (p.Ala117Thr) single nucleotide variant no interpretation for the single variant rs28940886 GRCh38 Chromosome 16, 67942939: 67942939
16 LCAT NM_000229.1(LCAT): c.475C> T (p.Arg159Trp) single nucleotide variant Pathogenic rs28940887 GRCh37 Chromosome 16, 67976622: 67976622
17 LCAT NM_000229.1(LCAT): c.475C> T (p.Arg159Trp) single nucleotide variant Pathogenic rs28940887 GRCh38 Chromosome 16, 67942719: 67942719
18 LCAT NM_000229.1(LCAT): c.1197dupA (p.Gln400Thrfs) duplication Pathogenic rs794726663 GRCh38 Chromosome 16, 67940030: 67940030
19 LCAT NM_000229.1(LCAT): c.1197dupA (p.Gln400Thrfs) duplication Pathogenic rs794726663 GRCh37 Chromosome 16, 67973933: 67973933
20 LCAT NM_000229.1(LCAT): c.1034C> T (p.Thr345Met) single nucleotide variant Pathogenic rs28940888 GRCh37 Chromosome 16, 67974096: 67974096
21 LCAT NM_000229.1(LCAT): c.1034C> T (p.Thr345Met) single nucleotide variant Pathogenic rs28940888 GRCh38 Chromosome 16, 67940193: 67940193
22 LCAT NM_000229.1(LCAT): c.321C> A (p.Tyr107Ter) single nucleotide variant Pathogenic rs121908055 GRCh37 Chromosome 16, 67976870: 67976870
23 LCAT NM_000229.1(LCAT): c.321C> A (p.Tyr107Ter) single nucleotide variant Pathogenic rs121908055 GRCh38 Chromosome 16, 67942967: 67942967
24 LCAT NM_000229.1(LCAT): c.544C> T (p.Arg182Cys) single nucleotide variant no interpretation for the single variant rs387906300 GRCh37 Chromosome 16, 67976470: 67976470
25 LCAT NM_000229.1(LCAT): c.544C> T (p.Arg182Cys) single nucleotide variant no interpretation for the single variant rs387906300 GRCh38 Chromosome 16, 67942567: 67942567
26 LCAT NM_000229.1(LCAT): c.1039C> T (p.Arg347Cys) single nucleotide variant Uncertain significance rs202017590 GRCh38 Chromosome 16, 67940188: 67940188
27 LCAT NM_000229.1(LCAT): c.1039C> T (p.Arg347Cys) single nucleotide variant Uncertain significance rs202017590 GRCh37 Chromosome 16, 67974091: 67974091
28 LCAT NM_000229.1(LCAT): c.159C> T (p.Pro53=) single nucleotide variant Uncertain significance rs556480808 GRCh37 Chromosome 16, 67977111: 67977111
29 LCAT NM_000229.1(LCAT): c.159C> T (p.Pro53=) single nucleotide variant Uncertain significance rs556480808 GRCh38 Chromosome 16, 67943208: 67943208
30 LCAT NM_000229.1(LCAT): c.534G> T (p.Glu178Asp) single nucleotide variant Uncertain significance rs886052220 GRCh38 Chromosome 16, 67942577: 67942577
31 LCAT NM_000229.1(LCAT): c.534G> T (p.Glu178Asp) single nucleotide variant Uncertain significance rs886052220 GRCh37 Chromosome 16, 67976480: 67976480
32 LCAT NM_000229.1(LCAT): c.*12T> C single nucleotide variant Uncertain significance rs886052219 GRCh38 Chromosome 16, 67939892: 67939892
33 LCAT NM_000229.1(LCAT): c.*12T> C single nucleotide variant Uncertain significance rs886052219 GRCh37 Chromosome 16, 67973795: 67973795
34 LCAT NM_000229.1(LCAT): c.748+13C> G single nucleotide variant Uncertain significance rs750086555 GRCh38 Chromosome 16, 67942350: 67942350
35 LCAT NM_000229.1(LCAT): c.748+13C> G single nucleotide variant Uncertain significance rs750086555 GRCh37 Chromosome 16, 67976253: 67976253
36 LCAT NM_000229.1(LCAT): c.1177C> T (p.Leu393=) single nucleotide variant Likely benign rs5923 GRCh38 Chromosome 16, 67940050: 67940050
37 LCAT NM_000229.1(LCAT): c.1177C> T (p.Leu393=) single nucleotide variant Likely benign rs5923 GRCh37 Chromosome 16, 67973953: 67973953
38 LCAT NM_000229.1(LCAT): c.981A> C (p.Gly327=) single nucleotide variant Uncertain significance rs139453193 GRCh38 Chromosome 16, 67940246: 67940246
39 LCAT NM_000229.1(LCAT): c.981A> C (p.Gly327=) single nucleotide variant Uncertain significance rs139453193 GRCh37 Chromosome 16, 67974149: 67974149
Sources

Expression for Lecithin:cholesterol Acyltransferase Deficiency

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Search GEO for disease gene expression data for Lecithin:cholesterol Acyltransferase Deficiency.
Sources

Pathways for Lecithin:cholesterol Acyltransferase Deficiency

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Pathways related to Lecithin:cholesterol Acyltransferase Deficiency according to KEGG:

38
# Name Kegg Source Accession
1 Glycerophospholipid metabolism hsa00564

Pathways related to Lecithin:cholesterol Acyltransferase Deficiency according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Metabolism 67
Show member pathways
 13.85 ALB APOA1 APOA2 APOB APOC2 APOC3
2
Metabolism of water-soluble vitamins and cofactors 67
Show member pathways
 12.47 APOA1 APOA2 APOB APOC2 APOC3 APOE
3
Lipoprotein metabolism 67
Show member pathways
 12.3 ALB APOA1 APOA2 APOB APOC2 APOC3
4
Selenium Micronutrient Network 1
Show member pathways
 12.1 ALB APOA1 APOB APOE LDLR
5
Metabolism of fat-soluble vitamins 67
Show member pathways
 12.09 APOA1 APOA2 APOB APOC2 APOC3 APOE
6
Ca, cAMP and Lipid Signaling 4
11.79 ALB APOA1 APOE
7
Binding and Uptake of Ligands by Scavenger Receptors 67
Show member pathways
 11.75 ALB APOA1 APOB APOE
8
PPAR signaling pathway 38
11.49 APOA1 APOA2 APOC3 LPL
9
Statin Pathway 1
Show member pathways
 11.44 APOA1 APOA2 APOB APOC2 APOC3 APOE
10
Fat digestion and absorption 38
Show member pathways
 11.3 APOA1 APOB NPC1L1
11
PPAR Alpha Pathway 1
11.05 APOA1 APOA2 APOC3
12
Vitamin digestion and absorption 38
10.9 APOA1 APOB
13
Cholesterol and Sphingolipids transport / Recycling to plasma membrane in lung (normal and CF) 23
10.77 APOA1 APOA2
Sources

GO Terms for Lecithin:cholesterol Acyltransferase Deficiency

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Cellular components related to Lecithin:cholesterol Acyltransferase Deficiency according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 early endosome GO:0005769 9.95 APOA1 APOA2 APOB APOC2 APOC3 APOE
2 endoplasmic reticulum lumen GO:0005788 9.89 ALB APOA1 APOA2 APOB APOE
3 blood microparticle GO:0072562 9.84 ALB APOA1 APOA2 APOE
4 high-density lipoprotein particle GO:0034364 9.73 APOA1 APOA2 APOC2 APOE CETP LCAT
5 low-density lipoprotein particle GO:0034362 9.72 APOA1 APOB APOC2 APOE LDLR
6 clathrin-coated endocytic vesicle membrane GO:0030669 9.69 APOB APOE LDLR
7 spherical high-density lipoprotein particle GO:0034366 9.67 APOA1 APOA2 APOC2 APOC3
8 endocytic vesicle lumen GO:0071682 9.65 APOA1 APOB APOE
9 intermediate-density lipoprotein particle GO:0034363 9.55 APOA1 APOB APOC2 APOC3 APOE
10 discoidal high-density lipoprotein particle GO:0034365 9.52 APOA1 APOE
11 chylomicron GO:0042627 9.5 APOA1 APOA2 APOB APOC2 APOC3 APOE
12 very-low-density lipoprotein particle GO:0034361 9.17 APOA1 APOA2 APOB APOC2 APOC3 APOE
13 extracellular region GO:0005576 10.21 ALB APOA1 APOA2 APOB APOC2 APOC3
14 extracellular space GO:0005615 10.16 ALB APOA1 APOA2 APOB APOC2 APOC3
15 extracellular exosome GO:0070062 10.15 ALB APOA1 APOA2 APOB APOC3 APOE

Biological processes related to Lecithin:cholesterol Acyltransferase Deficiency according to GeneCards Suite gene sharing:

(show top 50) (show all 65)
# Name GO ID Score Top Affiliating Genes
1 low-density lipoprotein particle remodeling GO:0034374 9.97 APOA2 APOB APOE CETP LPA
2 cholesterol efflux GO:0033344 9.97 APOA1 APOA2 APOB APOC2 APOC3 APOE
3 high-density lipoprotein particle remodeling GO:0034375 9.97 ALB APOA1 APOA2 APOC2 APOC3 APOE
4 lipid catabolic process GO:0016042 9.96 APOB APOC2 APOC3 LPL
5 phospholipid efflux GO:0033700 9.96 APOA1 APOA2 APOC2 APOC3 APOE
6 high-density lipoprotein particle clearance GO:0034384 9.95 APOA1 APOA2 APOC2 APOE LDLR
7 chylomicron assembly GO:0034378 9.93 APOA1 APOA2 APOB APOC2 APOC3 APOE
8 chylomicron remnant clearance GO:0034382 9.92 APOB APOC2 APOC3 APOE LDLR
9 positive regulation of catalytic activity GO:0043085 9.9 APOA2 APOC2 APOE
10 phospholipid metabolic process GO:0006644 9.89 APOA1 LCAT LPL
11 lipoprotein biosynthetic process GO:0042158 9.89 APOA1 APOB APOE LCAT
12 phospholipid transport GO:0015914 9.87 APOA1 CETP LDLR
13 cholesterol transport GO:0030301 9.87 APOA1 APOA2 APOB CETP LCAT LDLR
14 cholesterol biosynthetic process GO:0006695 9.85 APOA1 APOE NPC1L1
15 phosphatidylcholine biosynthetic process GO:0006656 9.83 APOA1 APOA2 LCAT
16 high-density lipoprotein particle assembly GO:0034380 9.81 APOA1 APOA2 APOE
17 positive regulation of cholesterol esterification GO:0010873 9.8 APOA1 APOA2 APOE
18 regulation of Cdc42 protein signal transduction GO:0032489 9.8 APOA1 APOC3 APOE
19 chylomicron remodeling GO:0034371 9.8 APOA1 APOA2 APOB APOC2 APOC3 APOE
20 lipoprotein catabolic process GO:0042159 9.79 APOB APOE LDLR
21 negative regulation of very-low-density lipoprotein particle remodeling GO:0010903 9.79 APOA1 APOA2 APOC3
22 lipoprotein transport GO:0042953 9.74 APOB APOC2
23 low-density lipoprotein particle clearance GO:0034383 9.73 APOB LDLR
24 artery morphogenesis GO:0048844 9.73 APOB APOE
25 negative regulation of lipid catabolic process GO:0050995 9.73 APOA2 APOC3
26 positive regulation of lipid biosynthetic process GO:0046889 9.73 APOA1 APOE
27 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.73 APOB LPL
28 regulation of cholesterol metabolic process GO:0090181 9.73 APOE LDLR
29 phosphatidylcholine metabolic process GO:0046470 9.72 CETP LCAT
30 regulation of protein metabolic process GO:0051246 9.72 APOE LDLR
31 very-low-density lipoprotein particle assembly GO:0034379 9.72 APOB APOC3
32 intestinal cholesterol absorption GO:0030299 9.72 LDLR NPC1L1
33 phospholipid homeostasis GO:0055091 9.71 APOA1 CETP
34 positive regulation of cholesterol storage GO:0010886 9.71 APOB LPL
35 regulation of cholesterol transport GO:0032374 9.71 APOA1 APOE
36 cholesterol import GO:0070508 9.71 APOA1 LDLR
37 negative regulation of cytokine secretion involved in immune response GO:0002740 9.7 APOA1 APOA2
38 negative regulation of receptor-mediated endocytosis GO:0048261 9.7 APOC2 APOC3
39 peptidyl-methionine modification GO:0018206 9.7 APOA1 APOA2
40 very-low-density lipoprotein particle clearance GO:0034447 9.7 APOB APOE
41 lipoprotein metabolic process GO:0042157 9.7 APOA1 APOA2 APOB APOC3 APOE LDLR
42 regulation of intestinal cholesterol absorption GO:0030300 9.69 APOA1 APOA2
43 negative regulation of cholesterol transport GO:0032375 9.68 APOA2 APOC2
44 negative regulation of lipase activity GO:0060192 9.68 APOA1 APOA2
45 negative regulation of lipid metabolic process GO:0045833 9.68 APOC2 APOC3
46 negative regulation of very-low-density lipoprotein particle clearance GO:0010916 9.68 APOC2 APOC3
47 protein oxidation GO:0018158 9.67 APOA1 APOA2
48 triglyceride-rich lipoprotein particle remodeling GO:0034370 9.66 APOA2 APOC2
49 negative regulation of cholesterol import GO:0060621 9.65 APOA2 APOC3
50 response to caloric restriction GO:0061771 9.65 APOE LDLR

Molecular functions related to Lecithin:cholesterol Acyltransferase Deficiency according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 phospholipid binding GO:0005543 9.83 APOA1 APOA2 APOB APOC3 APOE
2 heparin binding GO:0008201 9.8 APOB APOE LPA LPL
3 cholesterol binding GO:0015485 9.72 APOA1 APOA2 APOC3 APOE CETP
4 amyloid-beta binding GO:0001540 9.7 APOA1 APOE LDLR
5 lipid binding GO:0008289 9.7 ALB APOA1 APOA2 APOC2 APOC3 APOE
6 lipid transporter activity GO:0005319 9.65 APOA1 APOA2 APOB APOE CETP
7 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.58 APOA1 APOA2 APOE
8 low-density lipoprotein particle receptor binding GO:0050750 9.57 APOB APOE
9 phospholipid transporter activity GO:0005548 9.56 APOA1 CETP
10 apolipoprotein binding GO:0034185 9.55 LPA LPL
11 high-density lipoprotein particle binding GO:0008035 9.54 APOA1 APOA2
12 high-density lipoprotein particle receptor binding GO:0070653 9.54 APOA1 APOA2 APOC3
13 lipoprotein particle binding GO:0071813 9.51 APOA1 APOE
14 apolipoprotein receptor binding GO:0034190 9.48 APOA1 APOA2
15 triglyceride binding GO:0017129 9.46 CETP LPL
16 lipase inhibitor activity GO:0055102 9.26 APOA1 APOA2 APOC2 APOC3
17 cholesterol transporter activity GO:0017127 9.02 APOA1 APOA2 APOB APOE CETP
Sources

Sources for Lecithin:cholesterol Acyltransferase Deficiency

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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